R127W in HNF4α is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 34 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0012-186X
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Maturity onset diabetes of the young (MODY) is a genetically heterogeneous form of type 2 diabetes that is characterized by autosomal dominant inheritance, onset in early adulthood and a primary defect in insulin secretion. Mutations in at least six genes have been shown to underlie MODY, including
Maturity-onset diabetes of the young (MODY) is a subtype of early-onset diabetes mellitus which is characterized by autosomal dominant inheritance. Several genes are known to induce MODY : HNF4A/MODY1, GCK/MODY2, TCF1/MODY3, IPF1/MODY4, TCF2/MODY5 and NEUROD1/MODY6. We studied a Swiss family with 13
Maturity-onset diabetes of the young is a genetically heterogenous autosomal dominant form of diabetes mellitus, characterized by an early age at onset and a primary defect in beta-cell function. Forty families with a clinical presentation suggestive of MODY were screened for the most common MODY su